A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997858



Internal ID20564898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129340424..129340770hg38UCSC Ensembl
chr12:129824969..129825315hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485261
Supporting Variants
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997858
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00313


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